20.500.12556/DiRROS-28887 Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest Abstract Background Cardiomyopathies (CMs) present phenotypically on a spectrum and in a proportion of patients the initial presentation is sudden cardiac arrest (SCA). Studies performing genetic screening of SCA survivors have identifed (likely) pathogenic (LP/P) variants in 2–50% of probands, with mean cohort ages ranging from 28 to 64 years. Due to inconsistent data in the literature, our study aimed to genetically characterise Slovenian SCA survivors with clinically confrmed/suspected cardiomyopathy (CM). The present study included 29 probands (17 women, 59%) with clinically confrmed/suspected CM who survived SCA and were referred to the Clinical Institute of Genomic Medicine for genetic testing between January 2010 and July 2024. The majority of probands (23; 79%) underwent whole exome sequencing, and the remainder either clinical exome (5; 17%) or panel sequencing (1; 4%). Genetic data were analysed following ACMG/AMP guidelines and ACGS recommendations. Results Probands survived SCA at a mean age of 49±17 years (range 15–71), and 12 (41%) were<50 years old. The majority had clinically confrmed/suspected arrhythmogenic (10; 34.5%) or dilated (9; 31.0%) CM, while the remainder had clinically undefned (5; 17.2%), hypertrophic (4; 13.8%), or non-compaction (1; 3.4%) CM. Seven LP/P variants in CM-related genes were identifed in eight (28.6%) probands. In addition, 16 variants of uncertain signifcance (VUS) were identifed in 12 (41.3%) probands. Probands’ age at SCA did not signifcantly afect the yield, as LP/P variants were identifed in four probands<50 years at SCA and in four>50 years (p=0.56), nor did the positive family history of heart disease (p=0.55) or sudden cardiac death (p=0.43). There were also no signifcant diferences in probands’ age and test outcome, as the mean age of patients with LP/P variants was 46±21 years, those with the VUS(s) were 45±15 years, and those without candidate variant(s) were 55±12 years (p=0.41). Conclusions LP/P variants were identifed in almost one-third of Slovenian SCA survivors with clinically confrmed/ suspected CM. Genetic testing of SCA survivors with structural clinical fndings provides additional confrmation of the clinical diagnosis and a basis for identifying relatives at risk of heart disease, allowing for better management. sudden cardiac arrest genetic testing molecular pathology (likely) pathogenic variants hereditary cardiomyopathy true false true Angleški jezik Ni določen Neznano 2026-04-10 14:24:05 2026-04-10 14:24:05 2026-04-11 03:54:50 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 20. 6. 2025; str. 1-5 iss. 42 Vol. 15 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 575:616.1 2090-5939 10.1186/s41935-025-00461-1 240148227 RAZ_Vodnjov_Nina_2025.pdf RAZ_Vodnjov_Nina_2025.pdf 1 BCE1FBAE3CAEF31DC61BD37D7C3003D4 45f57c85f6be8391120395a92eb3597dfb18c36f116e70a7e5343d91486d627c 431f9f07-34d8-11f1-b941-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43071 https://ejfs.springeropen.com/articles/10.1186/s41935-025-00461-1 1 2d77ed15-34d8-11f1-b941-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43070 Univerzitetni klinični center Ljubljana 0 0 0